autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures Disease Ontology Browser

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autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (DOID:0070038)
Alliance: disease page
Synonyms: autosomal dominant intellectual developmental disorder 8; autosomal dominant mental retardation 8; autosomal dominant non-syndromic intellectual disability 8; MRD8; NDHMSD
Alt IDs: OMIM:614254, NCI:C206518, UMLS_CUI:C3280282
Definition: An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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